NM_000535.7(PMS2):c.83C>T (p.Ser28Phe) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001337225.7
Allele description [Variation Report for NM_000535.7(PMS2):c.83C>T (p.Ser28Phe)]
NM_000535.7(PMS2):c.83C>T (p.Ser28Phe)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
Homo sapiens polycystin 2 like 1, transient receptor potential cation channel (P...
Homo sapiens polycystin 2 like 1, transient receptor potential cation channel (PKD2L1), RefSeqGene on chromosome 10gi|1027250667|ref|NG_047099.1|Nucleotide
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Last Updated: Sep 29, 2024